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Epilepsy Mechanisms in Down Syndrome: Genetic and Pathophysiological Perspectives Across the Lifespan
Stafstrom CE, Shao LR.. Journal of clinical medicine, 2026-09-25
Topic: Brain proteins, microglia and lab models
Down syndrome (trisomy 21) is the most common genetic cause of intellectual disability. Seizures are a frequent comorbidity in individuals with Down syndrome and can exert significant negative consequences on cognitive capacity and quality of life. In Down syndrome, seizures cluster at two extremes of the lifespan. In the first year of life, infantile epileptic spasms syndrome affects 5-10% of children with Down syndrome. The second peak occurs after age 30 years, when myoclonic seizures appear at the time of onset of Down syndrome-related dementia of the Alzheimer type (late-onset myoclonic epilepsy in Down syndrome or LOMEDS). While epilepsy at these two disparate time points has been long recognized in the Down syndrome population, the mechanisms underlying seizure pathogenesis have not been studied in detail. For example, it is not known whether the brain developmental abnormalities that characterize Down syndrome are primarily responsible for the epilepsies or whether distinct mechanisms underlie seizures at the two ages. This narrative review addresses possible mechanisms of seizure propensity across the lifespan, with special reference to potential age-specific treatments.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Stafstrom, C. E., & Shao, L. R. (2026). Epilepsy Mechanisms in Down Syndrome: Genetic and Pathophysiological Perspectives Across the Lifespan. Journal of clinical medicine. https://doi.org/10.3390/jcm15197471
Vancouver
Stafstrom CE, Shao LR. Epilepsy Mechanisms in Down Syndrome: Genetic and Pathophysiological Perspectives Across the Lifespan. Journal of clinical medicine. 2026. doi:10.3390/jcm15197471. PMID: 42881935.
BibTeX
@article{stafstrom2026-42881935,
author = {Stafstrom, C. E. and Shao, L. R.},
title = {{Epilepsy Mechanisms in Down Syndrome: Genetic and Pathophysiological Perspectives Across the Lifespan}},
journal = {Journal of clinical medicine},
year = {2026},
doi = {10.3390/jcm15197471},
pmid = {42881935},
url = {https://doi.org/10.3390/jcm15197471}
}
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Key findings
- Seizures are a frequent comorbidity in individuals with Down syndrome and can exert significant negative consequences on cognitive capacity and quality of life.
Study details
- Study designnarrative review
- Evidence strengthLow
How this study scored 43/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 25 of the 58 points we could judge it on, which is 43 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of clinical medicine) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | Design recorded as “narrative review”, which our rubric does not rank (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 5 / 5 | 2026 — within 1 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 42881935) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 25 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 25 of the 58 points we could judge it on is 43 out of 100. |
| Total | 43 / 100 | — |
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